NPC2 Polyclonal Antibody, Biotin Conjugated

NPC2 is a secreted protein mapping against gene 14q24.3 (1,2) . NPC2 regulates the lipid composition of sperm membranes during maturation in the epididymis (1,2) . Mutations in the NPC2 gene may cause Nieman-Pick type C2 disease and frontal lobe atrophy (1,2,3) . Nieman-Pick type C2 is a fatal hereditary disease characterized by defective lysosome release of cholesterol (3) . The disease is caused by HE1 deficiency, a lysosmal protein proven to be undetectable in fibroblasts from NPC2 patients (3) . This differentiates NPC2 from NPC1, as NPC1 has HE1 protein present (3) .

EDDM1; Epididymal protein 1; Epididymal secretory protein; Epididymal secretory protein E1; HE1; Human epididymis-specic protein 1; Niemann-Pick disease type C2; Niemann-Pick disease type C2 protein; NPC2; NPC2_HUMAN; Tissue specic secretory protein.